Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_assertion> ?p ?o ?g. }
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- NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_assertion type Assertion NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_head.
- NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_assertion description "[Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_provenance.
- NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_assertion evidence source_evidence_literature NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_provenance.
- NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_assertion SIO_000772 12427073 NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_provenance.
- NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_assertion wasDerivedFrom befree-2016 NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_provenance.
- NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_assertion wasGeneratedBy ECO_0000203 NP374000.RAXN7A1xpSeV91c_bd9MfRAK9CoYIiYyYwr0Rbreoj7P8130_provenance.